The non-fluent/agrammatic variant of primary progressive aphasia (naPPA) is a young-onset neurodegenerative disorder characterised by poor grammatical comprehension and expression and a disorder of speech sound production. In an era of disease-modifying treatments, the identification of naPPA might be an important step in establishing a specific cause of neurodegenerative disease. ...

Ontology and associated generic tools are appropriate for knowledge modeling and reasoning, but most of the time, disease definitions in existing description logic (DL) ontology are not sufficient to classify patient's characteristics under a particular disease because they do not formalize operational definitions of diseases (association of signs and symptoms=diagnostic ...

Autoimmune pancreatitis (AIP) and IgG4-associated cholangitis (IAC) are the recently recognized pancreatobiliary manifestations of IgG4-associated systemic disease (ISD). Clinically, ISD of the pancreas and/or biliary tree may mimic pancreatic cancer, sclerosing cholangitis, or cholangiocarcinoma. Patients often present with abdominal pain, weight loss, jaundice, itch, and biochemical signs of pancreatitis and ...

Context Angiofollicular lymph node hyperplasia or Castleman's disease is a rare clinical condition. Knowledge about etiology and physiopathology; and treatment management as well are yet to be defined. Unicentric presentation of this disease affecting single lymph nodes in the mediastinum seems to be the most common presentation. Castleman's disease localized ...

Background: Antithyroid drugs such as methimazole (MMI), the mainstay of pharmacologic therapy for Graves' disease, can provoke a variety of adverse effects. MMI-induced acute pancreatitis is very rare, being described in only a few patients and never after more than two exposures as reported here. Here, we report an 18-year-old ...

Background: Graves' orbitopathy is an inflammatory orbital disease that represents the commonest extrathyroidal manifestation of Graves' disease. Autoimmune pancreatitis (AIP) is a rare inflammatory disease characterized by prominent lymphocytic infiltration and fibrosis of the pancreas causing organ dysfunction. Summary: This report provides the first clinical description of severe Graves'-like orbitopathy ...

Pancreatic autoantibodies (PAB) giving characteristic staining patterns of the exocrine pancreas by indirect immunoflourescence appear to be specific markers of Crohn's disease (CrD), being present in approximately 30% of patients with CrD and in less than 5% of patients with ulcerative colitis (UC). Some studies have suggested that PAB are ...

Autoimmune pancreatitis is the pancreatic manifestation of IgG4-related sclerosing disease, which recently was recognized as a distinct disease entity. Numerous extrapancreatic organs, such as the bile ducts, gallbladder, kidneys, retroperitoneum, thyroid, salivary glands, lung, mediastinum, lymph nodes, and prostate may be involved, either synchronously or metachronously. Most cases of autoimmune ...

The purpose of this review is to provide a concise view of the existing knowledge of autoimmune pancreatitis (AIP) for practicing clinicians. AIP is a rare disease whose recognition and understanding are evolving. It is a type of chronic pancreatitis that often presents as obstructive jaundice, has a distinctive histology, ...

Cystic fibrosis (CF) is the most common fatal inherited disease in Caucasian people. Inheritance follows an autosomal recessive pattern. Recent data indicate that there are more than 9,000 patients with CF in the UK. At a cellular level there is an abnormal CF transmembrane conductance regulator (CFTR), a protein essential ...

The histopathology of type 1 diabetes is defined by a decreased β-cell mass in association with insulitis, a characteristic lymphocytic infiltration limited to the islets of Langerhans and prominent in early stage disease in children. A cytotoxic T-cell mediated destruction of insulin-producing β-cells is thought to be initiated by an ...

The aim of the current study was to determine the sensitivity and specificity of serum canine pancreatic elastase-1 (cPE-1) for the diagnosis of pancreatitis in dogs. The study was prospective, assessing dogs presenting with clinical signs similar to pancreatitis. Sixty-one dogs were recruited (49 with pancreatic disease and 12 with ...

To evaluate serum free light chains (FLC) as a putative biomarker of systemic lupus erythematosus (SLE) activity. Seventy-five SLE patients and 41 age- and sex-matched rheumatoid arthritis (RA) controls were enrolled. Disease activity was assessed using the Safety of Estrogens in Lupus Erythematosus: National Assessment version of the Systemic Lupus ...

Exocrine pancreatic disease is thought to be uncommon in clinical practice and usually secondary to excess alcohol intake. Although excess alcohol intake does account for many cases of exocrine pancreatic disease, other conditions are associated with exocrine pancreatic insufficiency and such dysfunction perhaps occurs more frequently than conventionally expected. A ...

The regenerating gene (REG) is a multigene family in humans that plays a role in tissue regeneration. The REG Iα protein is expressed in the pancreas and the gastrointestinal tract and is involved in the pathophysiology of gastritis, pancreatitis, cancer, inflammatory bowel disease, and type 1 diabetes (T1D). Celiac disease ...

Abstract Background. Autoimmune pancreatitis, in comparison to other benign chronic pancreatic diseases, is characterized by the possibility of curing the illness with immunosuppressant drugs. The open question is whether to differentiate autoimmune pancreatitis as a primary or secondary disease based on the presence or absence of other autoimmune diseases or ...

Psoriasis is an autoimmune chronic inflammatory skin disease that is common in Spain. Connective tissue diseases are a heterogeneous group of conditions characterized by the abnormal function or structure of one or more of the elements that make up connective tissue. These diseases are also autoimmune in origin. In spite ...

Background: Intakes of selected vitamins and dietary fiber may influence the clinical course of systemic lupus erythematosus (SLE). Using a cohort study method, we investigated the associations of dietary intake of vitamin B6 and B12, folate, and dietary fiber with the risk of active disease and atherosclerotic vascular events in ...

BACKGROUND: We present a young woman with a negative medical history who presented with acute systemic lupus erythematosus (SLE) pneumonitis mimicking swine influenza (H1N1) pneumonia. Because this case occurred during the H1N1 pandemic, the initial diagnostic impression was of H1N1 pneumonia. METHODS: Although her clinical and laboratory findings were consistent ...

Rituximab is a CD20 chimeric monoclonal antibody. It was approved by the US Food and Drug Administration for the treatment of relapsed or refractory low-grade or follicular non-Hodgkin lymphoma and for the treatment of moderate to severely active rheumatoid arthritis. It has been used as an off-label treatment in many ...

Activated cytotoxic T lymphocyte (CTL) mediated target cell death has been implicated in the development of systemic autoimmune disease like SLE. However, the role of soluble granzyme B and its relationship with CTL activity and disease activity is still unknown. In this study, we evaluated role of soluble granzyme B ...

Systemic lupus erythematosus (SLE) results from complex abnormalities of the innate and acquired immune systems. For reasons that are currently not well understood, the disease course and phenotype associated with SLE, although quite variable, are generally more severe when the diagnosis is made during childhood. Active disease, infections, lupus nephritis, ...

An immunocompromised patient with non-specific neurological symptoms and signs, along with rapid cognitive decline evolving over three to four weeks, can present a diagnostic challenge. Here we report rapidly progressive dementia in a patient with systemic lupus erythematosus, who was subsequently diagnosed with sporadic Creutzfeldt-Jakob disease (sCJD). This case illustrates ...

Systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) are two severe autoimmune connective tissue diseases. The fundamental knowledge about their aetiology is limited and the conditions display complex pathogenesis, multifaceted presentations, and unpredictable courses. Despite significant efforts, the lack of fully validated biomarkers enabling diagnosis, classification, and monitoring of disease ...

Systemic lupus erythematosus (SLE) is a prototypic autoimmune inflammatory disease characterized by the production of autoantibodies directed against nuclear antigens such as nucleosomes, DNA, and histone proteins found within the body's cells and plasma. Autoantibodies may induce disease by forming immune complexes that lodge in target organs or by cross-reacting ...

  Systemic lupus erythematosus is an autoimmune connective tissue disorder that affects multiple organs. While the clinical manifestations may vary in intensity over time and be associated with chronic disease, occasional cases occur where sudden and unexpected death has occurred. Cardiovascular disease is common, with accelerated atherosclerosis, intravascular thrombosis associated ...

Evidence points to an association of prolactin to autoimmune diseases. We examined the correlation between hyperprolactinemia and disease manifestations and activity in a large patient cohort. Age- and sex-adjusted prolactin concentration was assessed in 256 serum samples from lupus patients utilizing the LIASON prolactin automated immunoassay method (DiaSorin S.p.A, Saluggia, ...

Systemic lupus erythematosus (SLE) is a complex autoimmune disease with significant clinical heterogeneity. Recent advances in our understanding of the genetic, molecular, and cellular bases of autoimmune diseases and especially SLE have led to the application of novel and targeted treatments. Although many treatment modalities are effective in lupus-prone mice, ...

To determine how to use the Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI) to classify patients according to disease severity (mild, moderate, and severe) and to identify which patients respond to therapy. Cohort. The connective-tissue disease clinic at the Hospital of the University of Pennsylvania, Philadelphia. Seventy-five patients ...

The etiology of autoimmune diseases remains largely unknown. Concordance rates in monozygotic twins are lower than 50% while genome-wide association studies propose numerous significant associations representing only a minority of patients. These lines of evidence strongly support other complementary mechanisms involved in the regulation of genes expression ultimately causing overt ...

Sarcoidosis is a multisystem granulomatous disorder that most often affects the lungs and may cause significant morbidity. Sarcoidosis can manifest as neurological disease, uveitis, blindness, end-stage pulmonary fibrosis, pulmonary hypertension, dysrhythmias, cardiomyopathy, hypercalcemia, and renal failure. Sarcoidosis persists as chronic disease in approximately one-third of those affected. Clinical pitfalls and ...

Advances in immunotherapy have improved survival of patients with systemic lupus erythematosus who now face an increasing burden of chronic diseases including that of the kidney. As systemic inflammation is also thought to contribute directly to the progression of chronic kidney disease (CKD), we assessed this risk in patients with ...

Natalizumab is a humanised monoclonal antibody targeting the lymphocyte adhesion molecule a4 integrin, with proven efficacy in multiple sclerosis (MS) and Crohn's disease (CD). The development of sarcoidosis with extrapulmonary involvement is reported in two patients with refractory CD who had received maintenance therapy with natalizumab. This complication has not ...

IgG4-related disease is a novel lymphoproliferative disorder that shows hyper-IgG4-γ-globulinemia and IgG4-producing plasma cell expansion in affected organs with fibrotic or sclerotic changes. Patients show systemic inflammatory conditions and various symptoms depending on the affected organ. Since the first report of patients with elevated serum IgG4 in sclerosing pancreatitis in ...

Nepal has a high prevalence of various endocrine diseases, which is a challenge for its endocrinologists. This article reviews the unique features and trends of endocrine disease, including diabetes, in Nepal. It focuses on the challenges and solutions that endocrine care providers face in the country.

Sarcoidosis, a systemic granulomatous disease of undetermined etiology, is characterized by a variable clinical presentation and course. During the past decade, advances have been made in the study of sarcoidosis. The multicenter ACCESS (A Case Control Etiologic Study of Sarcoidosis) trial recruited > 700 subjects with newly diagnosed sarcoidosis and ...

To date, CNS disease and neuropsychiatric symptoms of systemic lupus erythematosus (NP-SLE) have been understudied compared to end-organ failure and peripheral pathology. In this review, we focus on a specific mouse model of lupus and the ways in which this model reflects some of the most common manifestations and potential ...

This is a case-report of a patient who came to our Eye Emergency Room for acute onset of myopia and asthenia. The purpose is to evaluate the causes of acute myopia in a 28 year old woman with a family history of rheumatic diseases and a positive antibody titer (ANA). ...

Patients with systemic lupus erythematosus have up to a 50-fold increased risk of developing atherosclerotic cardiovascular disease. Recent advances in the etiology of vascular damage in this disease stress the interplay of lupus-specific inflammatory factors with traditional cardiac risk factors, leading to increased endothelial damage. This review analyzes the putative ...

Tumor necrosis factor (TNF)-like weak inducer of apoptosis (TWEAK) is a recently identified proinflammatory cytokine of the TNF superfamily. Studies have indicated that TWEAK plays an important role in renal, vascular injury and immune disease. The aim of this study was to explore the expression of the TWEAK in peripheral ...

Glycodelin A (GdA) is a lipocalin with an immunomodulatory role. Low expression of GdA has been implicated in the progression of autoimmune disease. Therefore, strategies targeting GdA may constitute an important target for the design of drugs for autoimmune disease including systemic lupus erythematosus (SLE). This opinion article will focus ...

Careful examination of the oral cavity may reveal findings indicative of an underlying systemic condition, and allow for early diagnosis and treatment. Examination should include evaluation for mucosal changes, periodontal inflammation and bleeding, and general condition of the teeth. Oral findings of anemia may include mucosal pallor, atrophic glossitis, and ...

Despite the relatively high prevalence of coronary artery disease in women, there are little data on the investigation and treatment of ischemic heart disease in this population. In the last couple of decades authors have addressed health problems in minorities, including women. The great majority of these studies included the ...

The studies of association of disease activity and damage with health-related quality of life (HRQOL) in lupus have shown equivocal results and has not been studied in Thailand. To examine the HRQOL and to examine the association between HRQOL and SLE disease severity (disease activity and damage) in Thai SLE ...

Epigenetic features such as DNA hypomethylation have been associated with conditions related to cardiovascular risk. We evaluated whether lower blood DNA methylation in heavily methylated repetitive sequences predicts the risk of ischemic heart disease and stroke. We quantified blood DNA methylation of Long Interspersed Nucleotide Element-1 (LINE-1) repetitive elements through ...

Coagulopathies are common in horses with ischemic or inflammatory gastrointestinal (GI) disturbances. There is indirect evidence suggesting that early stages of these diseases are characterized by hypercoagulability (HC). HC, assessed via thromboelastography (TEG), is common in horses with ischemic or inflammatory GI diseases. The degree of HC is correlated with ...

Stroke in general, and ischemic stroke in particular, are routinely defined using clinical criteria. Incorporating brain imaging and neuropathological findings into an expanded conceptual definition of stroke will result in a vastly increased prevalence of the disease. The resultant category of mixed cerebrovascular disease thus may include subclinical infarct, cerebral ...

Kikuchi-Fujimoto disease is rarely associated with systemic lupus erythematosus (SLE). Kikuchi Fujimoto disease may precede, follow or coincide with the diagnosis of SLE. We report a case who was initially diagnosed as Kikuchi Fujimoto disease with SLE. She is presently in remission after treatment of SLE.

Ischaemic tissue damage represents the ultimate form of tissue pathophysiology due to cardiovascular disease, which is the leading cause of morbidity and mortality across the globe. A significant amount of basic research and clinical investigation has been focused on identifying cellular and molecular pathways to alleviate tissue damage and dysfunction ...

The 2009 recommendations of the U.S. Preventive Services Task Force regarding mammography have called attention to the roles of prevention and screening in promoting women's health. We take this opportunity to raise awareness of another devastating illness in women, ischemic heart disease, and to suggest that screening for ischemic heart ...